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Mostrando 281 - 300 Resultados de 198,103 Para Buscar '"mutation"', tiempo de consulta: 0.54s Limitar resultados
  1. 281
    “…More recently, a novel activation mechanism was identified whereby mutated forms of calreticulin form complexes with TPO-R via its extracellular N-glycosylated domain. …”
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    The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin
  2. 282
    “…Although all genetic variation ultimately stems from mutations, their properties are difficult to study directly. …”
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    Fitness change in relation to mutation number in spontaneous mutation accumulation lines of Chlamydomonas reinhardtii
  3. 283
    “…Defective DNA polymerase ε (POLE) proofreading leads to extensive somatic mutations that exhibit biased mutational properties; however, the characteristics of POLE-mutated tumours remain unclear. …”
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    Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations
  4. 284
    por Phillips, David H.
    Publicado 2018
    “…Reporter gene assays, in which a single mutation from each experiment can contribute to the assembly of a mutation spectrum for an agent, have provided the basis for understanding the mutational processes induced by mutagenic agents and for providing clues to the origins of mutations in human tumours. …”
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    Mutational spectra and mutational signatures: Insights into cancer aetiology and mechanisms of DNA damage and repair
  5. 285
    “…Individual instances of cancer are primarily a result of a combination of a small number of genetic mutations (hits). Knowing the number of such mutations is a prerequisite for identifying specific combinations of carcinogenic mutations and understanding the etiology of cancer. …”
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    Estimating the number of genetic mutations (hits) required for carcinogenesis based on the distribution of somatic mutations
  6. 286
    “…To test this hypothesis, we generated mice harboring a Calr frameshift mutation using the CRISPR/Cas9 system. Deletion of 19-base pairs in exon 9 (c.1099-1117del), designated the del19 mutation, induced loss of the KDEL motif and generated many positively charged AAs, similar to human mutants. …”
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    Mice with Calr mutations homologous to human CALR mutations only exhibit mild thrombocytosis
  7. 287
    por Boyce, Kylie J., Idnurm, Alexander
    Publicado 2019
    “…Although mutation drives evolution over long and short terms, measuring and comparing mutation rates accurately have been particularly difficult. …”
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    Lighting Up Mutation: a New Unbiased System for the Measurement of Microbial Mutation Rates
  8. 288
    “…BACKGROUND: Analysis of melanomas for actionable mutations has become the standard of care. Recently, a classification scheme has been proposed that categorizes BRAF mutations based on their mechanisms for activation of the MAPK pathway. …”
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    Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing
  9. 289
    “…The rates and biological significance of somatic mutations have long been a subject of debate. Somatic mutations in plants are expected to accumulate with vegetative growth and time, yet rates of somatic mutations are unknown for conifers, which can reach exceptional sizes and ages. …”
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    Somatic mutations substantially increase the per‐generation mutation rate in the conifer Picea sitchensis
  10. 290
    “…BACKGROUND: Additional sex combs-like 1 (ASXL1) mutations have been described in all forms of myeloid neoplasms including chronic myelomonocytic leukemia (CMML) and associated with inferior outcomes, yet the molecular pathogenesis of ASXL1 mutations (ASXL1-MT) remains poorly understood. …”
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    RUNX1 mutations promote leukemogenesis of myeloid malignancies in ASXL1-mutated leukemia
  11. 291
    “…We searched for additional mutations in the putative secondary driver gene protein tyrosine kinase 2 beta (PTK2B) and we developed new mutational signatures that explain the mutational pattern observed in UM. …”
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    Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma
  12. 292
    “…This study was performed to identify the NPR2 mutations in Korean patients with idiopathic short stature (ISS). …”
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    Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations
  13. 293
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    Author Correction: The effects of mutational processes and selection on driver mutations across cancer types
  14. 294
    por Livesey, Benjamin J, Marsh, Joseph A
    Publicado 2020
    “…We find that DMS experiments tend to be superior to the top‐ranking predictors, demonstrating the tremendous potential of DMS for identifying novel human disease mutations. Among the VEPs, DeepSequence clearly stood out, showing both the strongest correlations with DMS data and having the best ability to predict pathogenic mutations, which is especially remarkable given that it is an unsupervised method. …”
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    Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
  15. 295
    “…We calculated the hydrophobicity of neopeptides produced by probabilistic in silico simulation of the genomic UV exposure mutational signature. We also computed the hydrophobicity of potential neopeptides and extent of UV exposure based on the UV mutational signature enrichment (UVMSE) score in The Cancer Genome Atlas (TCGA; N = 3543 tumors), and in our cohort of 151 immunotherapy‐treated patients. …”
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    Role of ultraviolet mutational signature versus tumor mutation burden in predicting response to immunotherapy
  16. 296
    “…BACKGROUND: As genetic testing for both germline and tumor mutations has increased in completeness, complexity, and availability, more mutations and their impact on patient outcomes have been identified. …”
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    RARE-27. DOUBLE MUTATIONS: DIFFERENT GERMLINE AND TUMOR MUTATIONS LEAD TO POOR OUTCOMES
  17. 297
    “…Furthermore, six novel mutations are reported, which would expand the mutation spectrum of the F8 gene.…”
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    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
  18. 298
    “…OBJECTIVE: DACH1 is a transcriptional repressor and tumor suppressor gene frequently mutated in melanoma, bladder, and prostate cancer. …”
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    DACH1 mutation frequency in endometrial cancer is associated with high tumor mutation burden
  19. 299
    “…In this study, we explored the utility of genomic mutation signature and tumor mutation burden (TMB) in predicting prognosis in iCCA patients. …”
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    Comprehensive analysis of genomic mutation signature and tumor mutation burden for prognosis of intrahepatic cholangiocarcinoma
  20. 300
    “…OBJECTIVE: To explore the mutated genes in esophageal cancer (ESCA), and evaluate its relationship with tumor mutation burden (TMB) and prognosis of ESCA, and analyze the advantages of FAT3 as a potential prognostic marker in ESCA. …”
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    FAT3 Mutation Is Associated With Tumor Mutation Burden and Poor Prognosis in Esophageal Cancer
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